Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Hemoglobin-Delta locus |
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Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
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Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Diamond-Blackfan Anemia 3 |
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Webbed neck, Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, P... |
OMIM:610629 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Hypobetalipoproteinemia, Familial, 1 |
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Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Decreased LDL cholesterol concentratio... |
OMIM:615558 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hemochromatosis, Type 5 |
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Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Psoriasiform dermatitis, Decreased ... |
OMIM:616834 |
Iron Overload, Susceptibility To |
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Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
Chylomicron Retention Disease |
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Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Dehydrated Hereditary Stomatocytosis |
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Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Cyanosis, Transient Neonatal |
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Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Abn... |
ORPHA:848 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Thrombocytopenia 5 |
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Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Depression, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoprotei... |
ORPHA:96180 |
Chylomicron Retention Disease |
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Steatorrhea, Hypocholesterolemia, Acanthocytosis |
ORPHA:71 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
Diamond-Blackfan Anemia 8 |
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Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Alpha-Thalassemia |
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Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Gracile Syndrome |
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Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... |
OMIM:603358 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Sickle Cell Anemia |
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Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Irritability, Decreased LDL cholesterol concentration, Elevated circulating ... |
OMIM:618156 |
Congenital Disorder Of Glycosylation, Type Il |
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Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Peroxisome Biogenesis Disorder 3B |
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Steatorrhea, Hypocholesterolemia, Elevated circulating phytanic acid concentration |
OMIM:266510 |
Oslam Syndrome |
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Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Tangier Disease |
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Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia |
ORPHA:31150 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Sitosterolemia 1 |
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Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
Hyperlipidemia, Familial Combined, 3 |
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Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Hyperferritinemia With Or Without Cataract |
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Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
Abetalipoproteinemia |
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Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased circulating iron concentration, Elevated hepatic iron concentration |
OMIM:206100 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Decreased HDL cholesterol conce... |
OMIM:618620 |
Methylcobalamin Deficiency Type Cble |
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Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... |
ORPHA:2169 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... |
OMIM:300539 |
Hemochromatosis, Neonatal |
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Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... |
OMIM:231100 |
Hjv Or Hamp-Related Hemochromatosis |
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Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:79230 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Elevated hemoglobin A1c |
OMIM:616511 |
Ziegler-Huang Syndrome |
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Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Congenital Disorder Of Glycosylation, Type Ia |
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Steatorrhea, Hypocholesterolemia, Hypoalbuminemia, Thrombocytosis |
OMIM:212065 |
Hemochromatosis, Type 2B |
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Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... |
OMIM:613313 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Beta-Thalassemia Intermedia |
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Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
X-Linked Sideroblastic Anemia |
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Abnormality of iron homeostasis |
ORPHA:75563 |
Acquired Methemoglobinemia |
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Confusion, Methemoglobinemia |
ORPHA:464453 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ... |
ORPHA:811 |
Lead Poisoning |
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Depression, Memory impairment, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concent... |
ORPHA:330015 |
Secondary Intestinal Lymphangiectasia |
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Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
Hyperaldosteronism, Familial, Type I |
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Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Alg12-Cdg |
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Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Beta-Thalassemia Major |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Rh-Null, Amorph Type |
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Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia, Short attention span |
OMIM:223370 |
Diamond-Blackfan Anemia |
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Webbed neck, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence ... |
ORPHA:124 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Thin skin |
OMIM:244450 |
Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... |
ORPHA:53693 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Diamond-Blackfan Anemia 1 |
|
Webbed neck, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell ad... |
OMIM:105650 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level, Increased circulating cortisol level, Glucocortoc... |
ORPHA:231625 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level |
ORPHA:320 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... |
ORPHA:71275 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Depression, Abnormal hemoglobin |
ORPHA:847 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Elevated circulating 7-dehydrocholesterol con... |
OMIM:270400 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:465508 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level |
ORPHA:90795 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... |
ORPHA:97214 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De... |
ORPHA:90793 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Abnormality of iro... |
OMIM:222470 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... |
ORPHA:309854 |
Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Panhypogammaglobulinemia |
ORPHA:84064 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... |
OMIM:201750 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly |
OMIM:619462 |